Zhang Xintao,Li Hongxing,Tang Weibing.Recent advances in applying single-cell sequencing technology for Hirschsprung’s disease[J].Journal of Clinical Pediatric Surgery,,():401-406.[doi:10.3760/cma.j.cn101785-20260202-00049]
Recent advances in applying single-cell sequencing technology for Hirschsprung’s disease
- Keywords:
- Hirschsprung Disease; Single-cell Sequencing
- Abstract:
- As a relatively common congenital disorder of enteric nervous system development in infants,Hirschsprung disease (HSCR) is a congenital gastrointestinal malformation caused by impaired migration and colonization of neural crest cells.Its causes are a combination of genetic and microenvironmental factors.Further explorations are still required for elucidating its pathogenesis,optimizing therapeutic strategies and managing complications.Single-cell sequencing technology may characterize the features of different cell subsets,the status of molecular regulatory networks and cell-cell interactions at single-cell level.Single-cell RNA sequencing has been widely utilized for HSCR researches and thus facilitating the dissection of microscopic pathogenesis of HSCR.This review focused upon the core application value of single-cell sequencing technology for elucidating the etiology and pathogenesis of HSCR,forumulating precise therapeutic strategies and managing Hirschsprung-associated enterocolitis (HAEC).It also examined current limitations of relevant studies in rare cell detection,spatial information acquisition and clinical translation.Further discussions were about future directions for technological integration and clinical translation,aiming to provide references for HSCR researches and clinical translations.
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Memo
收稿日期:2026-2-2。
基金项目:南京医科大学附属儿童医院高水平医院科技创新支撑计划项目(KJCXZ2024002)
通讯作者:唐维兵,Email:twbcn@njmu.edu.cn